Variant report

Variant	nsv613358
Chromosome Location	chr9:9895998-9913373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:
2	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:
3	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:

Extended variants
information (count: 1048 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1048 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17242717	chr9:9895998-9895999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550928438	chr9:9896002-9896003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185971951	chr9:9896034-9896035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12683848	chr9:9896044-9896045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530330867	chr9:9896078-9896079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548529593	chr9:9896136-9896137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565351767	chr9:9896141-9896142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534383998	chr9:9896143-9896144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551432053	chr9:9896151-9896152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190691669	chr9:9896225-9896226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571285892	chr9:9896232-9896233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537239101	chr9:9896245-9896246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10117397	chr9:9896256-9896257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573938611	chr9:9896271-9896272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74987984	chr9:9896274-9896275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10816218	chr9:9896276-9896277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566434506	chr9:9896284-9896285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538259721	chr9:9896306-9896307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573297797	chr9:9896309-9896310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545100666	chr9:9896342-9896343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181785474	chr9:9896372-9896373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142389238	chr9:9896385-9896386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544744307	chr9:9896399-9896400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561153776	chr9:9896488-9896489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10978070	chr9:9896494-9896495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546909034	chr9:9896501-9896502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560439233	chr9:9896507-9896508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577198437	chr9:9896509-9896510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551128541	chr9:9896510-9896511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151304554	chr9:9896513-9896514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534136093	chr9:9896514-9896515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139157207	chr9:9896517-9896518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10978071	chr9:9896522-9896523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549487993	chr9:9896523-9896524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116747104	chr9:9896538-9896539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554445074	chr9:9896546-9896547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547577672	chr9:9896551-9896552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536524675	chr9:9896556-9896557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574338308	chr9:9896575-9896576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80196313	chr9:9896592-9896593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144042937	chr9:9896622-9896623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74610117	chr9:9896625-9896626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558683110	chr9:9896631-9896632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575652758	chr9:9896633-9896634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146421789	chr9:9896635-9896636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115028395	chr9:9896655-9896656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73400678	chr9:9896660-9896661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111317582	chr9:9896665-9896666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528420402	chr9:9896689-9896690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560400548	chr9:9896695-9896696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:9895000-9897000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr9:9895200-9896000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:9895400-9903800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr9:9896000-9897000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:9896000-9897000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:9897000-9897200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:9897000-9897400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:9897200-9904000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:9901000-9901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:9901000-9901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:9901600-9902000	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:9901600-9904800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:9901800-9902000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:9901800-9903000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:9902000-9902200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr9:9902000-9903000	Enhancers	Primary B cells from cord blood	blood
18	chr9:9902200-9902400	Enhancers	Primary hematopoietic stem cells	blood
19	chr9:9902200-9903400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:9902400-9902600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr9:9902600-9907600	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:9903000-9903200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr9:9903000-9903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:9903000-9904000	Weak transcription	Primary B cells from cord blood	blood
25	chr9:9903200-9904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:9903400-9904400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:9903400-9906200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr9:9903600-9904400	Enhancers	Dnd41	blood
29	chr9:9903800-9904800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:9904000-9904400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr9:9904000-9905000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:9904000-9905200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:9904200-9904400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr9:9904400-9904600	Enhancers	Primary B cells from cord blood	blood
35	chr9:9904400-9907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:9904800-9907200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:9907200-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:9907600-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:9911000-9911600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:9911200-9911600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:9913200-9913800	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links